Incidental Mutation 'IGL02359:Hpf1'
ID290428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpf1
Ensembl Gene ENSMUSG00000038005
Gene Namehistone PARylation factor 1
Synonyms2700029M09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02359
Quality Score
Status
Chromosome8
Chromosomal Location60890418-60908671 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60896802 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 155 (I155V)
Ref Sequence ENSEMBL: ENSMUSP00000047235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037190] [ENSMUST00000136098] [ENSMUST00000146863] [ENSMUST00000149267]
Predicted Effect probably benign
Transcript: ENSMUST00000037190
AA Change: I155V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047235
Gene: ENSMUSG00000038005
AA Change: I155V

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:DUF2228 77 328 7e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134886
Predicted Effect probably benign
Transcript: ENSMUST00000136098
SMART Domains Protein: ENSMUSP00000119448
Gene: ENSMUSG00000038005

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146863
Predicted Effect probably benign
Transcript: ENSMUST00000149267
SMART Domains Protein: ENSMUSP00000118277
Gene: ENSMUSG00000038005

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Adamtsl5 T A 10: 80,343,728 probably null Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Ano3 A T 2: 110,884,943 L50* probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cep55 T A 19: 38,069,868 I303N probably damaging Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Egflam T C 15: 7,234,225 N748S probably benign Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17018 G T 19: 45,577,054 A156S probably benign Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
Lax1 A T 1: 133,680,470 S178T possibly damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr43 C T 17: 71,632,048 T217M possibly damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown Het
Other mutations in Hpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Hpf1 APN 8 60896802 missense probably benign
IGL00977:Hpf1 APN 8 60905719 missense probably benign 0.10
IGL01564:Hpf1 APN 8 60890479 utr 5 prime probably benign
IGL01688:Hpf1 APN 8 60896796 missense probably benign
IGL02352:Hpf1 APN 8 60896802 missense probably benign
R0571:Hpf1 UTSW 8 60900113 missense probably benign 0.02
R1016:Hpf1 UTSW 8 60895644 missense possibly damaging 0.95
R1522:Hpf1 UTSW 8 60896749 missense probably damaging 0.96
R1806:Hpf1 UTSW 8 60900120 missense probably benign 0.01
R4652:Hpf1 UTSW 8 60893730 missense possibly damaging 0.48
R4814:Hpf1 UTSW 8 60893807 missense probably damaging 1.00
R5268:Hpf1 UTSW 8 60893734 missense possibly damaging 0.92
R5645:Hpf1 UTSW 8 60896800 missense possibly damaging 0.85
R6221:Hpf1 UTSW 8 60893774 missense probably damaging 1.00
Posted On2015-04-16